ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr)

gnomAD frequency: 0.00002  dbSNP: rs752290177
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086734 SCV000641678 benign Tuberous sclerosis 1 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572956 SCV000675395 likely benign Hereditary cancer-predisposing syndrome 2022-11-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics RCV000713912 SCV000844556 uncertain significance not provided 2017-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000713912 SCV001766431 uncertain significance not provided 2021-01-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Genome-Nilou Lab RCV001086734 SCV002040137 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000713912 SCV005200855 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing PM2, PP2
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000713912 SCV005624766 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing

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